Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies (Q73412938)

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3 November 2019

title

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies (English)

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3 November 2019

1

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3 November 2019

author name string

L V Anderson

2

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3 November 2019

A Pyle

3

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3 November 2019

C Sewry

4

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3 November 2019

C Pollitt

5

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3 November 2019

M A Johnson

6

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3 November 2019

K Davison

7

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3 November 2019

J A Moss

8

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3 November 2019

E Mercuri

9

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F Muntoni

10

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K M Bushby

11

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3 November 2019

publication date

1 January 2001

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3 November 2019

published in

Neuromuscular Disorders

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3 November 2019

volume

11

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issue

1

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3 November 2019

page(s)

80-87

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The limb-girdle muscular dystrophies--proposal for a new nomenclature.

3 November 2019

cites work

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7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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7 January 2021

Caveolin-3 in muscular dystrophy

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Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

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7 January 2021

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

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7 January 2021

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

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7 January 2021

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

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7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

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7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

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7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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7 January 2021

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7 January 2021

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

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7 January 2021

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

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7 January 2021

Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex

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7 January 2021

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

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7 January 2021

Making sense of the limb-girdle muscular dystrophies

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7 January 2021

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

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7 January 2021

Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection

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7 January 2021

Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?

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7 January 2021

From adhalinopathies to alpha-sarcoglycanopathies: an overview.

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7 January 2021

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

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7 January 2021

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

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7 January 2021

Dysferlin is a plasma membrane protein and is expressed early in human development

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7 January 2021

Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies

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7 January 2021

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

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7 January 2021

Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy

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7 January 2021

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy

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7 January 2021

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

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7 January 2021

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

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7 January 2021

Structure and physiological function of calpains

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7 January 2021

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

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7 January 2021

Mutations in the sarcoglycan genes in patients with myopathy

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7 January 2021

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7 January 2021

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Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11166169%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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